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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FABP7-EPRS (FusionGDB2 ID:HG2173TG2058)

Fusion Gene Summary for FABP7-EPRS

check button Fusion gene summary
Fusion gene informationFusion gene name: FABP7-EPRS
Fusion gene ID: hg2173tg2058
HgeneTgene
Gene symbol

FABP7

EPRS

Gene ID

2173

2058

Gene namefatty acid binding protein 7glutamyl-prolyl-tRNA synthetase 1
SynonymsB-FABP|BLBP|FABPB|MRGEARS|EPRS|GLUPRORS|HLD15|PARS|PIG32|QARS|QPRS
Cytomap('FABP7')('EPRS')

6q22.31

1q41

Type of geneprotein-codingprotein-coding
Descriptionfatty acid-binding protein, brainbrain lipid-binding proteinbrain-type fatty acid-binding proteinhypothetical protein DKFZp547J2313mammary-derived growth inhibitor-relatedbifunctional glutamate/proline--tRNA ligasebifunctional aminoacyl-tRNA synthetasecell proliferation-inducing gene 32 proteinglutamate tRNA ligaseglutamatyl-prolyl-tRNA synthetaseglutaminyl-tRNA synthetaseproliferation-inducing gene 32 proteinprolif
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000356535, ENST00000368444, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 9 X 4=324
# samples 29
** MAII scorelog2(2/8*10)=1.32192809488736log2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FABP7 [Title/Abstract] AND EPRS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFABP7(123102339)-EPRS(220146740), # samples:1
Anticipated loss of major functional domain due to fusion event.FABP7-EPRS seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FABP7-EPRS seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FABP7-EPRS seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
FABP7-EPRS seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
FABP7-EPRS seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneEPRS

GO:0006433

prolyl-tRNA aminoacylation

24100331

TgeneEPRS

GO:0017148

negative regulation of translation

23071094

TgeneEPRS

GO:0071346

cellular response to interferon-gamma

15479637


check buttonFusion gene breakpoints across FABP7 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across EPRS (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4GBMTCGA-06-2563FABP7chr6

123102339

+EPRSchr1

220146740

-


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Fusion Gene ORF analysis for FABP7-EPRS

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000356535ENST00000468487FABP7chr6

123102339

+EPRSchr1

220146740

-
5CDS-intronENST00000368444ENST00000468487FABP7chr6

123102339

+EPRSchr1

220146740

-
Frame-shiftENST00000356535ENST00000366923FABP7chr6

123102339

+EPRSchr1

220146740

-
In-frameENST00000368444ENST00000366923FABP7chr6

123102339

+EPRSchr1

220146740

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000368444FABP7chr6123102339+ENST00000366923EPRSchr1220146740-13296683201123267

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000368444ENST00000366923FABP7chr6123102339+EPRSchr1220146740-0.0020912020.99790883

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Fusion Genomic Features for FABP7-EPRS


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for FABP7-EPRS


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:123102339/chr1:220146740)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFABP7chr6:123102339chr1:220146740ENST00000368444+34127_129116133.0RegionNote=Fatty acid binding
TgeneEPRSchr6:123102339chr1:220146740ENST000003669232732961_99113611513.0Compositional biasLys-rich
TgeneEPRSchr6:123102339chr1:220146740ENST000003669232732749_80513611513.0DomainNote=WHEP-TRS 1
TgeneEPRSchr6:123102339chr1:220146740ENST000003669232732822_87813611513.0DomainNote=WHEP-TRS 2
TgeneEPRSchr6:123102339chr1:220146740ENST000003669232732900_95613611513.0DomainNote=WHEP-TRS 3
TgeneEPRSchr6:123102339chr1:220146740ENST000003669232732204_21413611513.0MotifNote='HIGH' region
TgeneEPRSchr6:123102339chr1:220146740ENST000003669232732432_43613611513.0MotifNote='KMSKS' region
TgeneEPRSchr6:123102339chr1:220146740ENST0000036692327321152_115413611513.0Nucleotide bindingATP
TgeneEPRSchr6:123102339chr1:220146740ENST0000036692327321163_116413611513.0Nucleotide bindingATP
TgeneEPRSchr6:123102339chr1:220146740ENST0000036692327321237_124013611513.0Nucleotide bindingATP
TgeneEPRSchr6:123102339chr1:220146740ENST0000036692327321007_151213611513.0RegionNote=Proline--tRNA ligase
TgeneEPRSchr6:123102339chr1:220146740ENST0000036692327321121_112313611513.0RegionL-proline binding
TgeneEPRSchr6:123102339chr1:220146740ENST000003669232732164_75913611513.0RegionNote=Glutamate--tRNA ligase
TgeneEPRSchr6:123102339chr1:220146740ENST000003669232732760_95613611513.0RegionNote=3 X 57 AA approximate repeats
TgeneEPRSchr6:123102339chr1:220146740ENST000003669232732959_99113611513.0RegionNote=Charged


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Fusion Gene Sequence for FABP7-EPRS


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>28210_28210_1_FABP7-EPRS_FABP7_chr6_123102339_ENST00000368444_EPRS_chr1_220146740_ENST00000366923_length(transcript)=1329nt_BP=668nt
TTTCTCAGGCATAAGGGCTGTAGTGTGAGGATTGGGAGGAACTCGACCTACTCCGCTAACCCAGTGGCCTGAGCCAATCACAAAGAGGAT
TGGAGCCTCACTCGAGCGCTCCTTCCCTTCTCCTCTCTCTGTGACAGCCTCTTGGAAAGAGGGACACTGGAGGGGTGTGTTTGCAATTTA
AATCACTGGATTTTTGCCCACCCTCTTTCCAAATAAGAAGGCAGGAGCTGCTTGCTGAGGTGTAAAGGGTCTTCTGAGCTGCAGTGGCAA
TTAGACCAGAAGATCCCCGCTCCTGTCTCTAAAGAGGGGAAAGGGCAAGGATGGTGGAGGCTTTCTGTGCTACCTGGAAGCTGACCAACA
GTCAGAACTTTGATGAGTACATGAAGGCTCTAGGCGTGGGCTTTGCCACTAGGCAGGTGGGAAATGTGACCAAACCAACGGTAATTATCA
GTCAAGAAGGAGACAAAGTGGTCATCAGGACTCTCAGCACATTCAAGAACACGGAGATTAGTTTCCAGCTGGGAGAAGAGTTTGATGAAA
CCACTGCAGATGATAGAAACTGTAAGTCTGTTGTTAGCCTGGATGGAGACAAACTTGTTCACATACAGAAATGGGATGGCAAAGAAACAA
ATTTTGTAAGAGAAATTAAGGATGGCAAAATGGTTATGGGAGTTCCCATTAGACTTGAAGTTGGGCCACGTGATATGAAGAGCTGTCAGT
TTGTAGCCGTCAGACGAGATACTGGAGAAAAGCTGACAGTTGCTGAAAATGAGGCAGAGACTAAACTTCAAGCTATTTTGGAAGACATCC
AGGTCACCCTTTTCACAAGGGCTTCTGAAGACCTTAAGACTCATATGGTTGTGGCTAATACAATGGAAGACTTTCAGAAGATACTAGATT
CTGGAAAGATTGTTCAGATTCCATTCTGTGGGGAAATTGACTGTGAGGACTGGATCAAAAAGACCACTGCCAGGGATCAAGATCTTGAAC
CTGGTGCTCCATCCATGGGAGCTAAAAGCCTTTGCATCCCCTTCAAACCACTCTGTGAACTGCAGCCTGGAGCCAAATGTGTCTGTGGCA
AGAACCCTGCCAAGTACTACACCTTATTTGGTCGCAGCTACTGAGGGATGAACGAAAGCCCCCTCTTCAACTCCTCTCACTTTTTAAAGC
ATTGATATTAGTATCTTCTCAGATACAGACCGTTTTATGATTTTTTAAAAAGTAAAAGTTCTAAAATGAAGTCACACAGGACAATTATTC

>28210_28210_1_FABP7-EPRS_FABP7_chr6_123102339_ENST00000368444_EPRS_chr1_220146740_ENST00000366923_length(amino acids)=267AA_BP=116
MVEAFCATWKLTNSQNFDEYMKALGVGFATRQVGNVTKPTVIISQEGDKVVIRTLSTFKNTEISFQLGEEFDETTADDRNCKSVVSLDGD
KLVHIQKWDGKETNFVREIKDGKMVMGVPIRLEVGPRDMKSCQFVAVRRDTGEKLTVAENEAETKLQAILEDIQVTLFTRASEDLKTHMV

--------------------------------------------------------------

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Fusion Gene PPI Analysis for FABP7-EPRS


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for FABP7-EPRS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FABP7-EPRS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFABP7C0005586Bipolar Disorder2PSYGENET
HgeneFABP7C0023893Liver Cirrhosis, Experimental2CTD_human
HgeneFABP7C0006142Malignant neoplasm of breast1CTD_human
HgeneFABP7C0036341Schizophrenia1PSYGENET
HgeneFABP7C0678222Breast Carcinoma1CTD_human
HgeneFABP7C1257931Mammary Neoplasms, Human1CTD_human
HgeneFABP7C1458155Mammary Neoplasms1CTD_human
HgeneFABP7C4704874Mammary Carcinoma, Human1CTD_human